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rs121434616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434616(C;T)
Make rs121434616(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120544179
GeneCUL4B
is asnp
is mentioned by
dbSNPrs121434616
ebirs121434616
HLIrs121434616
Exacrs121434616
Varsomers121434616
Maprs121434616
PheGenIrs121434616
hapmaprs121434616
1000 genomesrs121434616
hgdprs121434616
ensemblrs121434616
gopubmedrs121434616
geneviewrs121434616
scholarrs121434616
googlers121434616
pharmgkbrs121434616
gwascentralrs121434616
openSNPrs121434616
23andMers121434616
23andMe allrs121434616
SNP Nexus

SNPshotrs121434616
SNPdbers121434616
MSV3drs121434616
GWAS Ctlgrs121434616
Max Magnitude0
OMIM300304
Desc
Variant0002
Relatedalso
OMIM300304
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434616(T;T)
Alt rs121434616(T;T)
Reference rs121434616(C;C)
Significance Pathogenic
Disease Syndromic X-linked mental retardation
Variation info
Gene CUL4B
CLNDBN Syndromic X-linked mental retardation, Cabezas type
Reversed 1
HGVS NC_000023.10:g.119678034G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012092.13,